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1264006004: 'familial cold autoinflammatory syndrome' gerelateerd aan 'NLR caspase recruitment domain family member 4' (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5170868010 FCAS4 - familial cold autoinflammatory syndrome 4 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5170869019 NLR family caspase recruitment domain-containing 4-related familial cold autoinflammatory syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
5170870018 NLRC4-related familial cold autoinflammatory syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5170871019 NLR family caspase recruitment domain-containing 4-related familial cold autoinflammatory syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5170872014 NLRC4-related familial cold urticaria en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
14323031000146118 'familial cold autoinflammatory syndrome' gerelateerd aan 'NLR caspase recruitment domain family member 4' nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
14323041000146114 NLRC4-geassocieerd familiair koudegeïnduceerd auto-inflammatoir syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
14323051000146112 'familial cold autoinflammatory syndrome' gerelateerd aan 'NLR caspase recruitment domain family member 4' (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
5170873016 A rare hereditary periodic fever syndrome with characteristics of infantile or childhood onset of episodes of fever and cold-induced urticaria-like rash and arthralgia. Ocular features such as conjunctivitis and uveitis may also be present. Presentation is typically mild and symptoms resolve without treatment in most cases. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
NLR family caspase recruitment domain-containing 4-related familial cold autoinflammatory syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
NLR family caspase recruitment domain-containing 4-related familial cold autoinflammatory syndrome (disorder) Is a Hereditary disorder of immune system true Inferred relationship Some
NLR family caspase recruitment domain-containing 4-related familial cold autoinflammatory syndrome (disorder) Is a Hereditary periodic fever (disorder) true Inferred relationship Some
NLR family caspase recruitment domain-containing 4-related familial cold autoinflammatory syndrome (disorder) Clinical course Recurrent true Inferred relationship Some 3
NLR family caspase recruitment domain-containing 4-related familial cold autoinflammatory syndrome (disorder) Interprets Body temperature (observable entity) true Inferred relationship Some 2
NLR family caspase recruitment domain-containing 4-related familial cold autoinflammatory syndrome (disorder) Has interpretation Above reference range true Inferred relationship Some 2
NLR family caspase recruitment domain-containing 4-related familial cold autoinflammatory syndrome (disorder) Finding site Structure of immune system (body structure) true Inferred relationship Some 1
NLR family caspase recruitment domain-containing 4-related familial cold autoinflammatory syndrome (disorder) Associated morphology Inflammatory morphology (morphologic abnormality) true Inferred relationship Some 1
NLR family caspase recruitment domain-containing 4-related familial cold autoinflammatory syndrome (disorder) Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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